The ABCA subfamily - gene and protein structures, functions and associated hereditary diseases

被引:82
作者
Albrecht, Christiane [1 ]
Viturro, Enrique [1 ]
机构
[1] Tech Univ Munich, Physiol Weihenstephan, D-85354 Freising Weihenstephan, Germany
来源
PFLUGERS ARCHIV-EUROPEAN JOURNAL OF PHYSIOLOGY | 2007年 / 453卷 / 05期
关键词
ATP-binding cassette transporters; lipid transport; full transporters; ABCA subfamily;
D O I
10.1007/s00424-006-0047-8
中图分类号
Q4 [生理学];
学科分类号
071003 ;
摘要
To date, 12 members of the human ABCA subfamily are identified. They share a high degree of sequence conservation and have been mostly related with lipid trafficking in a wide range of body locations. Mutations in some of these genes have been described to cause severe hereditary diseases related with lipid transport, such as fatal surfactant deficiency or harlequin ichthyosis. In addition, most of them are hypothesized to participate in the subcellular sequestration of drugs, thereby being responsible for the resistance of several carcinoma cell lines against drug treatment. The objective of this review is to summarize the literature for this subfamily of ABC transporter proteins, excluding ABCA1 and ABCA4, which will be discussed in other chapters of this issue.
引用
收藏
页码:581 / 589
页数:9
相关论文
共 57 条
[1]   Mutations in lipid transporter ABCA12 in harlequin ichthyosis and functional recovery by corrective gene transfer [J].
Akiyama, M ;
Sugiyama-Nakagiri, Y ;
Sakai, K ;
McMillan, JR ;
Goto, M ;
Arita, K ;
Tsuji-Abe, Y ;
Tabata, N ;
Matsuoka, K ;
Sasaki, R ;
Sawamura, D ;
Shimizu, H .
JOURNAL OF CLINICAL INVESTIGATION, 2005, 115 (07) :1777-1784
[2]   Identification and characterization of a novel ABCA subfamily member, ABCA12, located in the lamellar ichthyosis region on 2q34 [J].
Annilo, T ;
Shulenin, S ;
Chen, ZQ ;
Arnould, I ;
Prades, C ;
Lemoine, C ;
Maintoux-Larois, C ;
Devaud, C ;
Dean, M ;
Denèfle, P ;
Rosier, M .
CYTOGENETIC AND GENOME RESEARCH, 2002, 98 (2-3) :169-176
[3]   Evolutionary analysis of a cluster of ATP-binding cassette (ABC) genes [J].
Annilo, T ;
Chen, ZQ ;
Shulenin, S ;
Dean, M .
MAMMALIAN GENOME, 2003, 14 (01) :7-20
[4]  
ARNOULD I, 2005, GENESCREEN, V1, P157
[5]   Cloning of ABCA17, a novel rodent sperm-specific ABC (ATP-binding cassette) transporter that regulates intracellular lipid metabolism [J].
Ban, N ;
Sasaki, M ;
Sakai, H ;
Ueda, K ;
Inagaki, N .
BIOCHEMICAL JOURNAL, 2005, 389 :577-585
[6]   Molecular structure and characterization of a novel murine ABC transporter, Abca13 [J].
Barros, SA ;
Tennant, RW ;
Cannon, RE .
GENE, 2003, 307 :191-200
[7]   Accumulation of dietary cholesterol in sitosterolemia caused by mutations in adjacent ABC transporters [J].
Berge, KE ;
Tian, H ;
Graf, GA ;
Yu, LQ ;
Grishin, NV ;
Schultz, J ;
Kwiterovich, P ;
Shan, B ;
Barnes, R ;
Hobbs, HH .
SCIENCE, 2000, 290 (5497) :1771-1775
[8]   Mitoxantrone resistance in a small cell lung cancer cell line is associated with ABCA2 upregulation [J].
Boonstra, R ;
Timmer-Bosscha, H ;
van Echten-Arends, J ;
van der Kolk, DM ;
van den Berg, A ;
de Jong, B ;
Tew, KD ;
Poppema, S ;
de Vries, EGE .
BRITISH JOURNAL OF CANCER, 2004, 90 (12) :2411-2417
[9]   Comparative analysis of the promoter structure and genomic organization of the human and mouse ABCA7 gene encoding a novel ABCA transporter [J].
Broccardo, C ;
Osorio, J ;
Luciani, MF ;
Schriml, LM ;
Prades, C ;
Shulenin, S ;
Arnould, I ;
Naudin, L ;
Lafargue, C ;
Rosier, M ;
Jordan, B ;
Mattei, M ;
Dean, M ;
Denèfle, P ;
Chimini, G .
CYTOGENETICS AND CELL GENETICS, 2001, 92 (3-4) :264-270
[10]   ABCA3 mutations associated with pediatric interstitial lung disease [J].
Bullard, JE ;
Wert, SE ;
Whitsett, JA ;
Dean, M ;
Nogee, LM .
AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE, 2005, 172 (08) :1026-1031